Proceedings of the second Artificial Intelligence in Primary Immunodeficiency (AIPI) meeting
- PMID: 40972982
- DOI: 10.1016/j.jaci.2025.09.002
Proceedings of the second Artificial Intelligence in Primary Immunodeficiency (AIPI) meeting
Abstract
The use of artificial intelligence (AI) in inborn errors of immunity offers transformative potential in diagnostics and disease management but faces multiple challenges that were discussed at the second Artificial Intelligence in Primary Immunodeficiency conference, held in New York City (March 19-22, 2025). The conference addressed 7 themes: predictive diagnostic algorithms, health equity, industry collaboration, advanced computational tools like large language models, patient-led AI initiatives, multiomics integration, and implementation science. Discussions highlighted the growing impact of AI on diagnostics, genomics, and health systems, emphasizing the need for high-quality, diverse datasets and ethical safeguards to ensure equitable application. Participants stressed that AI alone cannot resolve systemic inequities or delays in diagnosis. Challenges such as the lack of harmonized datasets, the complexity of integrating multiomics data, ethical concerns, and the difficulty of adapting solutions to low-resource settings were emphasized. Additionally, the use implementation science was pointed out as one of the major challenges to ensure applicability and scalability in real-world settings. This requires overcoming resistance to adoption, addressing infrastructure gaps, and ensuring regulatory compliance. Collaboration across academia, clinicians, patients, regulators, and industry is essential to ensure AI delivers equitable, lasting benefits for individuals with inborn errors of immunity.
Keywords: -omics; AI rare diseases; AI scalability; Artificial intelligence; clinical decision support; electronic health records; health equity; implementation science; inborn errors of immunity; large language models; machine learning; patient-centered AI; primary immunodeficiency.
Copyright © 2025 The Authors. Published by Elsevier Inc. All rights reserved.
Conflict of interest statement
Disclosure statement J. G. Rivière reports, outside the current report, speaker bureau honoraria and/or funded research from Takeda, CSL Behring, Pharming, and Grifols. R. Chunara reports, outside the current report, funding from the National Science Foundation (grant 1845487), the National Institutes of Health (NIH), and Optum. C. Cunningham-Rundles reports, outside the current report, consulting for Guidepost; advisory committee roles for Pharming and X4 Pharmaceuticals; participation in the Grifols Aspire Program; service on data safety monitoring boards for Grifols and Otsuka; and grant review activities for Grifols. J. Farmer reports, outside the current report, consulting for Pharming; receipt of investigator-initiated research grants from Pfizer, Bristol Myers Squibb, and Pharming; and service as associate editor for a Springer publication. E. Hsieh, outside the current report, has received funds from the Boettcher Foundation Webb-Waring Biomedical Research Grant, Lupus Research Alliance and Lupus Innovation Award, and Global Team Science Award; and has received consulting fees from Sumitomo Pharma of America Inc. S. Lee reports, outside the current report, funding from the National Institute on Minority Health and Health Disparities. J. B. Moore reports, outside the current report, consulting services for Medtronic; service on the scientific advisory board of Heali AI; and research funding from NIH, de Beaumont Foundation, Centers for Disease Control and Prevention (CDC), and Childhood Arthritis and Rheumatology Association. J. S. Orange reports, outside the current report, consulting for Takeda, Grifols, and ADMA Biologics. X. Peng reports, outside the current report, consulting for Genesis Therapeutics and MedZown; and participation in the speaker bureau for Pharming. G. Savova reports, outside the current report, research funding from NIH (U2CA248010, R01LM013486, U24CA253539) and European Molecular Biology Laboratory–European Bioinformatics Institute Core Funds. P. Robinson reports, outside the current report, funding from the National Institutes of Health (NIH) (NIH/NHGRI 5U24HG011449). K. Roberts reports, outside the current report, funding from the National Institutes of Health (NIH) (NIH R21AI164100 and R01LM014508). M. G. Seidel reports, outside the current report, receipt of advisory board honoraria from Pharming. P. Soler-Palacín reports, outside the current report, speaker bureau honoraria and/or funded research from Takeda, Pharming, CSL Behring, and Grifols. M. Butte reports, outside the current report, sponsored research from Pharming and X4 Pharmaceuticals; advisory board membership with ADMA Biologics; and speaker and advisory roles with Grifols; and is also founder of Rarefied Biosciences. N. L. Rider reports, outside the current report, receipt of support from National Institute of Allergy and Infectious Diseases, NIH (R21AI164100) and the CDC (CD-23-0057) through the Jeffrey Modell Foundation; a grant from Takeda (GRN-009472); consultancy for Takeda, Pharming, Grifols, and X4 Pharmaceuticals; and receipt of royalties from Wolters Kluwer for contributions to UpToDate. The rest of the authors declare that they have no relevant conflicts of interest.
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